Open Access Peer-reviewed Case Report

Anencephaly: A case report and the crucial role of folic acid supplementation and early diagnosis

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Girress Katshiemba Mutumbua corresponding author
Bony Luboya Numbi
Yannick Nkiambi Kiakuvue
Fortunat Shimatu Muhemba
Élie Tshintu Mulumba
Jannot Mpanya Mpanya
Ali Mukendi
Deo Mwelwa
Samuel Kabunda


Anencephaly is a congenital malformation caused by neural tube failure, which can be managed through folic acid intake during pregnancy. Diagnosis is typically prenatal, and termination of pregnancy is often recommended. A newborn born at Kolwezi paediatric clinic was born with a visible congenital malformation. The mother had a low socio-economic background and was 41 years old. An ultrasound scan revealed a progressing pregnancy at 30 weeks gestation with polyhydramnios. No antenatal care monitoring or folic acid prophylaxis was implemented during the periconceptional period and throughout the pregnancy. Anencephaly diagnosis was confirmed, and the newborn died five minutes post-birth. Preventive folic acid treatment has shown a decrease in neural tube defects, and first-trimester ultrasound scans can help identify life-incompatible congenital malformations. Advocating for legislative measures and genetic counselling is crucial to educate parents on recurrence risks and the advantages of folic acid supplementation before subsequent pregnancies.

anencephaly, folic acid supplementation, antenatal diagnosis, Kolwezi

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How to Cite
Mutumbua, G. K., Numbi, B. L., Kiakuvue, Y. N., Muhemba, F. S., Mulumba, Élie T., Mpanya, J. M., Mukendi, A., Mwelwa, D., & Kabunda, S. (2024). Anencephaly: A case report and the crucial role of folic acid supplementation and early diagnosis. Theory and Clinical Practice in Pediatrics, 5, 121-124.


  1. Stahl A, Tourame P. From anencephaly to the myth of headless men. Histoire des Sciences Medicales. 2011, 45(1): 85-90.
  2. Larsen W, Brauer PR, Schoenwolf GC, et al. Embryologie humaine. De Boeck Supérieur, 2017.
  3. Johnson SP, Sebire NJ, Snijders RJM, et al. Ultrasound screening for anencephaly at 10–14 weeks of gestation. Ultrasound in Obstetrics & Gynecology. 1997, 9(1): 14-16.
  4. Limb CJ, Holmes LB. Anencephaly: Changes in prenatal detection and birth status, 1972 through 1990. American Journal of Obstetrics and Gynecology. 1994, 170(5): 1333-1338.
  5. Jaquier M, Klein A, Boltshauser E. Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly. BJOG: An International Journal of Obstetrics & Gynaecology. 2006, 113(8): 951-953.
  6. Droulle P, Didier F, Simon E, et al. Système nerveux central et rachis in Echographie des malformations fœtales. Paris, Vigot. 1993, 42-84.
  7. Forrester MB, Merz RD. First‐year mortality rates for selected birth defects, Hawaii, 1986–1999. American Journal of Medical Genetics Part A. 2003, 119A(3): 311-318.
  8. Northrup H, Volcik KA. Spina bifida and other neural tube defects. Current Problems in Pediatrics. 2000, 30(10): 317-332.
  9. Oumer M, Kibret AA, Girma A, et al. Prevalence of anencephaly in Africa: a systematic review and meta-analysis. Scientific Reports. 2021, 11(1).
  10. Lubala TK, Shongo MY, Munkana AN, et al. Malformations congénitales à Lubumbashi (République Démocratique du Congo): à propos de 72 cas observés et plaidoyer en faveur du développement d’un Registre National des Malformations Congénitales et d’un Centre National de Référence de Génétique Humaine. Pan African Medical Journal. 2012, 13.
  11. Leck I, Causation on neural tube defects clue from epidemiology. British Medical Bulletin. 1974, 30(2): 158-163.
  12. Aubard Y, Piver P, Chinchilla AM, et al. Folates and neural tube. Journal of Gynecology Obstetrics Biological Reprod. 1997, 26(6): 576-584.
  13. Gaunefet CE, Sepou YMCA, Bogning MBO, Ndoma NV, Kosh KPJE, Kakounguere EP, Gody JC. Anencéphalie: à propos d’un cas au centre hospitalo-universitaire pédiatrique de Bangui. Bull Med Owendo. 2019, 17(47): 39-43.
  14. Kancherla V, Wagh K, Pachón H, et al. A 2019 global update on folic acid‐preventable spina bifida and anencephaly. Birth Defects Research. 2020, 113(1): 77-89.